{"Name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","DiseaseID__c":"GARD:0022358","id":22358,"encodedName":"linear-hypopigmentation-and-craniofacial-asymmetry-with-acral-ocular-and-brain-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","Xref_IDs__c":"1208985003; C5680313; MEDGEN:1806249; MONDO:0035124; OMIM:618727; ORPHA:589608","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:589608","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.","GARD_Name__c":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","GARD_Synonym__c":"rhoa (ras homolog family member a) related mosaic ectodermal dysplasia; rhoa-related mosaic ectodermal dysplasia","Curated_Disease_Description_Source__c":"ORPHA:589608","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:589608","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035124","ORPHANET_ID__c":"ORPHA:589608","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipopigmentación lineal y asimetría craneofacial con anomalías acrales, oculares y cerebrales","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipopigmentación lineal y asimetría craneofacial con anomalías acrales, oculares y cerebrales","Spanish_GARD_Synonym__c":"displasia ectodérmica en mosaico asociada a rhoa","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.","Curated_Disease_Description_Source__c":"ORPHA:589608","GARD_Synonym__c":"rhoa (ras homolog family member a) related mosaic ectodermal dysplasia; rhoa-related mosaic ectodermal dysplasia","Name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:589608"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680313","Source__c":"C5680313","Xref__c":"C5680313"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1806249","Source__c":"C5680313","Xref__c":"MEDGEN:1806249"},{"URL__c":"https://www.orpha.net/en/disease/detail/589608","Source__c":"C5680313; MONDO:0035124; ORPHA:589608","Xref__c":"ORPHA:589608"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035124","Source__c":"GARD:0022358","Xref__c":"MONDO:0035124"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208985003","Source__c":"C5680313","Xref__c":"1208985003"},{"URL__c":"https://www.omim.org/entry/618727","Source__c":"ORPHA:589608","Xref__c":"OMIM:618727"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RHOA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unilateral underdevelopment of the facial tissues, including muscles and bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011332","HPO_Synonym__c":"Decrease in size of half of face; Decrease in size of one side of the face; Decreased size of half of the face; Decreased size of one side of the face; Shrinking of half of face; Shrinking of one side of the face","HPO_Name__c":"Hemifacial hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006335","HPO_Synonym__c":"Deciduous teeth retention; Delayed loss of baby teeth; Delayed loss of deciduous teeth; Delayed loss of primary teeth; Failure to exfoliate deciduous teeth; Failure to exfoliate primary teeth; Failure to lose baby teeth; Persistence of deciduous teeth; Persistent deciduous dentition; Persistent primary dentition; Persistent primary teeth; Retained baby teeth; Retained deciduous teeth; Retained primary teeth","HPO_Name__c":"Persistence of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malposition of the pupil owing to a developmental defect of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009918","HPO_Synonym__c":"Corectopia; Displaced pupil","HPO_Name__c":"Ectopia pupillae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A widely spaced gap between the first toe (the great toe) and the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001852","HPO_Synonym__c":"Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe","HPO_Name__c":"Sandal gap","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes three and four.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009779","HPO_Synonym__c":"syndactyly of 3rd - 4th toes; Webbed 3rd-4th toes","HPO_Name__c":"3-4 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in bulk of the ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009928","HPO_Synonym__c":"Ala nasi, thick; Thickening of the alae nasi","HPO_Name__c":"Thick nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000698","HPO_Synonym__c":"Cone shaped tooth; Conoid tooth; Peg shaped teeth; Peg tooth; Peg-shaped teeth; Shark tooth","HPO_Name__c":"Conical tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618727","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007946","HPO_Synonym__c":"Narrow palpebral fissure, unilateral","HPO_Name__c":"Unilateral narrow palpebral fissure","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Odontology"],"Account":["Dermatology","Congenital limb malformation","Ectodermal dysplasia"]},"synonyms":["rhoa (ras homolog family member a) related mosaic ectodermal dysplasia"," rhoa-related mosaic ectodermal dysplasia"]}